bromochloroacetic-acid and Intellectual-Disability

Epidermal inclusion cyst is one of the common benign soft tissue tumors, and it can be easily confirmed and treated by surgical excision. We experienced a patient who had multiple masses on the face and scalp region, and the masses had been misdiagnosed as neurofibromatosis because of accompanying mental retardation. We would like to introduce a case of clinical diagnosis error caused by the lack of radiologic evaluation and pathologic confirmation. A 27-year-old male patient visited with multiple masses, with a length of approximately 1 to 10 cm on the face and scalp region. These mass have developed since childhood without known etiology, and there has been no histologic examination or surgical excision done in the past. The patient's history of seizure disorder and mental retardation led the primary clinician to diagnose it as neurofibromatosis in the initial stage, and therefore, the clinician gave an advice on the possibility of frequent recurrence to the patient. As the masses increased in size, the patient came to our hospital after all. We found that the masses were soft and mobile through the physical examination, and magnetic resonance imaging showed evidence of epidermal inclusion cyst, which is distinguished from neurofibromatosis. Based on physical examination and magnetic resonance imaging, we performed total excision and biopsies. On the histologic examination, it was diagnosed as an epidermal inclusion cyst showing keratotic material internally, and the cyst wall was composed of lamellate keratin. The follow-up period was 12 months, and a recurrence has not occurred. The wound was healed without any specific complication, and both the patient and the guardian were satisfied with the physical enhancement. We have observed a misdiagnosed case that was misconceived by the situation, accompanying mental retardation. Due to this misconception, any surgical treatment was not performed at all, and the symptoms eventually worsened as multiple huge epidermal inclusion cysts. We present this case with a brief review of literature.

Topics: Adult; Biopsy; Diagnosis, Differential; Epidermal Cyst; Epilepsy; Face; Follow-Up Studies; Humans; Intellectual Disability; Keratins; Magnetic Resonance Imaging; Male; Neurofibromatoses; Scalp Dermatoses

A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.

Topics: Adult; Carcinoma, Squamous Cell; Epidermal Cyst; Humans; Intellectual Disability; Keratins; Keratosis; Leukoplakia, Oral; Lip Neoplasms; Male; Mouth, Edentulous; Oral Ulcer; Pachyonychia Congenita; Syndrome

Topics: Adult; Biomarkers; Cell Dedifferentiation; Disease Progression; Glomerulonephritis; HIV Seronegativity; Humans; Intellectual Disability; Keratins; Ki-67 Antigen; Kidney Failure, Chronic; Kidney Glomerulus; Macrophages; Male; Podocytes; Renal Dialysis

Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive behavioral symptoms such as temper tantrums, aggressiveness, poor concentration and attention, impulsiveness, and mental retardation).. Tertiary care hospital.. Three children (two male siblings, and one unrelated girl).. We used the results from clinical neurological evaluations; imaging and electrodiagnostic studies; metabolic and genetic tests; skin biopsies and bone mineral densitometry. All three children suffered from (A) global developmental delay, (B) osteopenia, and (C) identical skin defects. The skin ultrastructural abnormalities were abnormal keratin differentiation, consisting of hyperkeratosis and granular layer thickening; sweat gland abnormalities, consisting of focal, cytoplasmic clear changes in eccrine secretory cells; and melanocyte abnormalities, with both morphological changes (reduced number and size without evident dendritic processes), and functional changes (defects in the migration of melanosomes in the keratinocytes). These patients present a previously unrecognized syndrome. We retain useful to report this new association, to be recognized, in the next future, as a specific key-sign of a well-defined genetic defect.

Topics: Biopsy; Bone Diseases, Metabolic; Child; Child, Preschool; Developmental Disabilities; Ectoderm; Female; Humans; Intellectual Disability; Keratins; Male; Melanocytes; Siblings; Skin; Sweat Glands; Syndrome

Three males with the X-linked disorder dyskeratosis congenita are described. Each suffered femoral fractures after minimal trauma with poor healing. Long bones showed coarse trabecular patterns of the metaphyses and small lucency areas in the diaphyses. Two of the males were retarded brothers who additionally showed intracranial calcifications.

Topics: Adolescent; Bone and Bones; Bone Diseases; Calcinosis; Female; Fractures, Bone; Humans; Intellectual Disability; Keratins; Male; Osteoporosis; Radiography; Sex Chromosome Aberrations; Skin Diseases; Skull; Syndrome; X Chromosome

The Sjögren-Larsson syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. The inheritance is autosomal recessive. All 36 patients with SLS alive in Sweden in 1980 were studied with regard to ichthyosis. A slight or moderate generalized hyperkeratosis, less pronounced in the face, was already present at birth. Collodion-like membranes were never seen. The ichthyosis developed to its full extent during infancy. It was sometimes slight but most often moderate. Three types occurred in various combinations. The skin changes were concentrated in the neck, flexures and lower abdomen, in which regions the scales were often dark. The non-scaly hyperkeratosis produced characteristic and easily visible skin markings. Generalized erythema was rare, especially in adults. The DNA synthesis of the epidermis and the production of a horny layer were increased. Hair and nails were normal, as also was the ability to sweat.

Topics: Adolescent; Adult; Biopsy; Child; Child, Preschool; DNA; Female; Genes, Recessive; Humans; Ichthyosis; Infant, Newborn; Intellectual Disability; Keratins; Male; Middle Aged; Muscle Spasticity; Paralysis; Skin; Syndrome

Topics: Animals; Brain Diseases; Child; Copper; Deficiency Diseases; Growth Disorders; Hair; Humans; Intellectual Disability; Keratins; Proteins; Sheep; Syndrome; Wool

Topics: Autopsy; Biopsy; Brain Diseases; Child, Preschool; Copper; Deficiency Diseases; Erythrocytes; Growth Disorders; Hair; Humans; Hypothermia; Infant; Intellectual Disability; Keratins; Liver; Oxidoreductases; Sulfhydryl Compounds; Time Factors

Topics: Adolescent; Bone Diseases; Child; Chondroitin; Cleidocranial Dysplasia; Female; Glycosaminoglycans; Heparin; Humans; Hyaluronic Acid; Intellectual Disability; Keratins; Male; Mucopolysaccharidoses; Osteitis Deformans; Osteogenesis Imperfecta; Scoliosis

Topics: Alexander Disease; Brain Diseases; Diffuse Cerebral Sclerosis of Schilder; Histocytochemistry; Humans; Hydrocephalus; Infant; Intellectual Disability; Keratins; Nerve Tissue Proteins; Pathology; Seizures; Tuberous Sclerosis